G14S (p.Gly14Ser) variant of BTD (Biotinidase)
G14S (p.Gly14Ser) in BTD (Biotinidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Biotinidase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
G14S (p.Gly14Ser) variant details
- p.Gly14Ser
- rs119103232
- ClinGen CA278010
- ClinVar RCV000001976
- ClinVar RCV004751191
- Pathogenic/Likely pathogenic
- Biotinidase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.29
- AlphaMissense 0.11
- MetaLR 0.54
- MetaSVM -0.14
- CADD 17.60
- PolyPhen-2 0.23
- ClinVar: Pathogenic/Likely pathogenic (Biotinidase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Profound biotinidase deficiency caused by a point mutation that creates a downstream cryptic 3' splice acceptor site… (PMID 9158148)
- Cited in: Biotinidase Deficiency. (PMID 20301497)